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Edition of 30 March 2022

International News

Rare Disease Day: Maintaining momentum around rare diseases

An editorial has been published in the Lancet Neurology journal on the challenges and hopes around rare central nervous system diseases. The article reveals that while these diseases are difficult to diagnose and treat, investments by drug developers in rare disease research as well as the integration of whole genome sequencing into routine clinical practice could substantially increase their diagnosis. Initiatives such as the IRDiRC or the Patient Identification and Engagement for RARE CNS Disorders (PIE4CNS) multistakeholder initiative, which aims to address barriers to timely diagnosis and to engagement of patients with clinical research in gene therapy and other promising novel technologies, represent a glimpse of hope for the rare disease community. The study however highlights that a new policy framework is needed at the European level, to build on existing European health and research programmes and to guide the implementation of national plans and national strategies across all countries in Europe. The study highlights that European and national policies need to build on on the current momentum around rare diseases.

United States: Rare diseases, common challenges

An editorial has been published in the Nature Genetics journal following Rare Disease Day 2022. The article calls for an integrated approach for rare disease research in the United States and the development of a research infrastructure that would minimise barriers to making connections, whether biological, therapeutic or societal, within and between rare diseases. The article reveals that the single-disorder focus creates challenges for jointly combining efforts, sharing data, assessing outcomes and capturing knowledge that could be relevant across diseases. A more integrated structure with appropriate support for researchers to coordinate across rare diseases would minimise redundant efforts and increase efficiency, potentially accelerating development and the implementation of successful therapies.

Brazil: The Brazilian Rare Disease Network initiative

A new study has been published in the Orphanet Journal of Rare Diseases focusing on the epidemiology of rare diseases in Brazil. The aim of the study is to describe the aims and methodology for epidemiological data collection on rare diseases in Brazil based on the Brazilian Rare Disease Network (BRDN) initiative, a project funded by the Ministry of Health of Brazil through the National Council for Scientific and Technological Development. The BRDN comprises 40 institutions, including 18 UH, 17 Rare Diseases Reference Services and five Newborn Screening Reference Services. This network is the first initiative of a large epidemiological data collection of rare diseases in Latin America, and the results will increase the knowledge of rare diseases in Brazil.

European News

FAIRopoly by EJP RD: FAIRification Guidance for ERN Patient Registries

The EJP RD has launched FAIRopoly, a virtual board game aiming to give a visual and succinct representation of the FAIRification steps followed by the ERNs registries to make their data more findable, accessible, interoperable and reusable. The detailed rules and guidance on how to play the game are available on EJP RD’s website.

Intellectual property rights and the production of high value medicines in the EU

The European Centre for International Political Economy has published a new study on the importance of intellectual property rights for the production of high value medicines in the EU. The study reveals that in order to achieve strategic autonomy of EU’s pharmaceutical industry, EU Member States need to further harmonise market access conditions, such as health technology assessments and national reimbursement practices. The study also reveals that the impact of intellectual property-related reforms for paediatrics and orphan drugs on access to medicines in the EU is largely negligible and that an erosion of universal research incentives in the EU would likely reduce innovation efforts and thus impede European citizen’s access to innovative treatments in the future.

Orphan Drugs

Drug repositioning trends in rare diseases

A new study has been published in the Drug Discovery Today journal on a drug repositioning landscape that facilitates drug development. The aim of the study is to review the current situation of ontologies in rare diseases, the trends in drug development, and an efficient strategy for drug repositioning based on drug target gene information. The study reveals that systematic ontologies can be used to link rare diseases with drugs and target genes. Drug repositioning events have occurred at high frequencies for rare diseases, and drug target genes could inform a scoring of drug repositioning. By using clinical trial data of rare diseases together with ontology preparation, drug target gene-based drug repositioning analyses will open new doors for drug development.

Comparative analysis of public reimbursement of orphan drugs in Canada and in the EU

A new study has been published in the Orphanet Journal of Rare Diseases comparing public reimbursement of orphan drugs in Canadian provinces and in European countries. The study analyses all the therapies with an orphan drug designation approved by the European Medicine Agency from 1 January 2015 to 31 March 2020 and then contrasted access to these drugs in Canada. The study reveals that Canadians had less frequent and timely access to therapies for rare diseases. The study highlights the need for a coordinated national strategy that will enable patients with rare disease to equitably and sustainably receive timely access to the most effective therapies in Canada.

Orphan drug prices and epidemiology of rare diseases in Italy

A new study has been published in the Frontiers in Medicine journal on orphan drug prices and the epidemiology of rare diseases in Italy between 2014 and 2019. The study reveals that there is an absence of correlation between orphan drug cost as well as sales volume in the first year of marketing and the related rare disease prevalence/incidence in Italy. The study shows that the availability of non-orphan indications, besides the first orphan indication of the drug, significantly increases the sale volumes of the product, which benefitted from numerous incentives available in the EU and at the national level.

Quality of care

Physicians' knowledge on specific rare diseases in China

A new study has been published in the Orphanet Journal of Rare Diseases to assess Chinese physicians’ knowledge on specific rare diseases and identify its associated factors. The study is a national cross-sectional study conducted across 6 provinces on 34 rare diseases. The study reveals that two thirds of the participants had an average or good level of knowledge on the specific rare disease that they felt most experienced in. The study also shows that physicians with female gender and specialties of internal medicine, obstetrics and gynecology, radiology, intensive care unit, and surgery, were associated with a relatively higher knowledge score. The study highlights that medical education and continuous training programmes, especially on genetics and translational research, are further needed to increase physicians’ knowledge on rare diseases.

Ethical, Legal and Social

Can popular movies enhance public understanding of rare diseases?

A new study has been published in the Orphanet Journal of Rare Diseases aiming to analyse how rare genetic diseases are depicted in popular movies. The study reveals that while movies do not provide information on the clinical aspects of rare diseases, they still have an educational potential. Indeed, movies address the ethical, psychosocial and the economic dimensions of rare diseases, notably by portraying the therapeutic odyssey, the role of patient advocacy groups as well the stigmatisation against rare disease patients. Movies thus can enhance the public understanding of rare diseases and might shape social attitudes towards such diseases, and may affect existing legislations.

Communicating the diagnosis of Klinefelter syndrome to children and adolescents

A study has been published in the Journal of Community Genetics aiming at analysing how, when, and who should communicate the diagnosis of Klinefelter syndrome to children and adolescents. The study reveals that communication should be performed before 14 years of age and not after 18 years. The study also shows that patients did not receive information about metabolic and cognitive features, revealing the need for clinicians to provide this information. Parents of patients also reported that discussing the disease with teachers, friends and schoolmates generates empathy and that sharing the genetic test results with friends was associated with a decrease in depression and anxiety levels.

Social and clinical impact of COVID-19 on patients with fibrodysplasia ossificans progressiva

A new study has been published in the Orphanet Journal of Rare Diseases aiming at analysing the social and clinical impact of COVID-19 on patients with fibrodysplasia ossificans progressiva. The study reveals that patients with fibrodysplasia ossificans progressiva showed a decrease in social activities during the pandemic as well as a decreased physical, meant and dental health. However, the majority of patients who tested positive for COVID-19 showed no major complications. The study also reveals that only one patient reported increased fibrodysplasia ossificans progressiva disease activity in response to a COVID-19 vaccine while case reports suggest that patients with this this disease remain at significant risk for complications after the injection.

Registries and biobanks

Musculoskeletal diseases in Marfan syndrome: a nationwide registry study in Denmark

A new study has been published in the Orphanet Journal of Rare Diseases analysing musculoskeletal morbidity in patients with Marfan syndrome in Denmark using data from a nationwide registry-based study from 1977 to 2014. The study reveals that there is a doubled risk of a registration of a musculoskeletal diagnosis for patients with Marfan syndrome, highlighting a significant burden of musculoskeletal diseases for these patients. The study also reveals that there is a relatively high number of patients with Marfan syndrome who had spinal surgery and it was performed at significantly younger age and mostly in women.

Analysis of the French National Registry of Facioscapulohumeral Dystrophy

A new study has been published in the Orphanet Journal of Rare Diseases on the French National Registry of facioscapulohumeral muscular dystrophy. The French National Registry contains clinical evaluation forms filled out by a physician with expertise in neuromuscular dystrophies and self-report questionnaires filled out by the patients. The study aims at comparing the results of both forms in order to determine the correlation between the answers provided by both physicians and patients and enhance the quality of data provided by the registry. The study reveals that patients and physicians agreed on a majority of questions related to quantitative and objective items, notably regarding demographics, diagnosis and care. However, answers related to facioscapulohumeral muscular dystrophy’ signs have a poor correlation between physicians and patients, including on the assessment of facial motricity and the presence of a winged scapula. The study thus reveals the need to optimise the forms used in the registry in order to obtain more relatable data on facioscapulohumeral muscular dystrophy and improve standards of care.

Data management

Global core biodata resource selection

The Global Biodata Coalition (GBC) has launched the initial round of Global Core Biodata Resource selection. The GBC is a forum for research funders to better coordinate and share approaches for the efficient management and growth of biodata resources worldwide. The GBC aims to stabilise and ensure sustainable financial support for the global biodata infrastructure. The GBC has developed a selection process to define Global Core Biodata Resources across biological, life science, and biomedical data resources worldwide. The coalition has published a document explaining the Core Biodata Resource concept and the procedure for their selection, thereby providing interested biodata resources with the opportunity to participate in the process.

The submission of expressions of interest is now open until 22 April 2022.

Data sharing holds key to progress on rare diseases in Europe

The Financial Times has published a report on data sharing for rare diseases in Europe. The report analyses the importance of data sharing and international collaboration for progress in therapies. The report recalls that according to the Rare2030 study, only 6 per cent of rare diseases have a dedicated treatment, and collecting data would create incentive for pharmaceutical companies to invest in finding treatments. The report includes the testimony of Yann Le Cam, chief executive of EURORDIS, who called for a comprehensive European rare disease plan in order to reduce the time for diagnosis and increase available therapies. These goals will only be achieved through better data sharing. Anna Kole, public health policy director at EURORDIS, affirmed in the article that “We have spent decades highlighting the problems and challenges, we’re ready to come forward with some solutions.”

Bioinformatics and biotechnology

Patient-facing genetic and genomic mobile apps in the United Kingdom

A new study has been published in the Journal of Community Genetics reviewing patient-facing genetic and genomic mobile apps available in the United Kingdom in order to explore their content, function, and quality. The study reveals that all apps reviewed intended to inform or educate users, while 32% also analysed genetic data, and 18% helped to diagnose genetic conditions. The study also reveals that very few genetic/genomic apps available in the UK were patient facing, and half were low-quality apps according to the Mobile App Rating Scale. These findings highlight the opportunity for a new high-quality patient-facing genetic app to be developed in the UK, in partnership with groups most at-risk of genetic disorders.

Summary of the edition of 30 March 2022

Editorial
Political news
Scientific news
And also...